rs730880297
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730880297(C;T) |
Make rs730880297(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 160126416 |
Gene | ITGB6 |
is a | snp |
is | mentioned by |
dbSNP | rs730880297 |
dbSNP (classic) | rs730880297 |
ClinGen | rs730880297 |
ebi | rs730880297 |
HLI | rs730880297 |
Exac | rs730880297 |
Gnomad | rs730880297 |
Varsome | rs730880297 |
LitVar | rs730880297 |
Map | rs730880297 |
PheGenI | rs730880297 |
Biobank | rs730880297 |
1000 genomes | rs730880297 |
hgdp | rs730880297 |
ensembl | rs730880297 |
geneview | rs730880297 |
scholar | rs730880297 |
rs730880297 | |
pharmgkb | rs730880297 |
gwascentral | rs730880297 |
openSNP | rs730880297 |
23andMe | rs730880297 |
SNPshot | rs730880297 |
SNPdbe | rs730880297 |
MSV3d | rs730880297 |
GWAS Ctlg | rs730880297 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880297(T;T) |
Alt | rs730880297(T;T) |
Reference | Rs730880297(C;C) |
Significance | Pathogenic |
Disease | Amelogenesis imperfecta |
Variation | info |
Gene | ITGB6 |
CLNDBN | Amelogenesis imperfecta, type IH |
Reversed | 1 |
HGVS | NC_000002.11:g.160982927G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000157640.4, |